Variant report

Variant	nsv5363
Chromosome Location	chr6:78856154-78914208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:
2	chr6:78871979..78874445-chr6:78875354..78878214,2	K562	blood:
3	chr6:78871979..78874445-chr6:78875354..78878214,2	K562	blood:

Extended variants
information (count: 311 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142326001	chr6:78863014-78863015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559774193	chr6:78863023-78863024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115903118	chr6:78863076-78863077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552293365	chr6:78863092-78863093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546062626	chr6:78863116-78863117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115836976	chr6:78863124-78863125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531370513	chr6:78863183-78863184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370395362	chr6:78863186-78863187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9361374	chr6:78863193-78863194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568383753	chr6:78863197-78863198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181551016	chr6:78863216-78863217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9448301	chr6:78863266-78863267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146361101	chr6:78863279-78863280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186529972	chr6:78863299-78863300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556658543	chr6:78863318-78863319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576346043	chr6:78863335-78863336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75203178	chr6:78863390-78863391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148310572	chr6:78863415-78863416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542252538	chr6:78863425-78863426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541177812	chr6:78863445-78863446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6921668	chr6:78863471-78863472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578151943	chr6:78863516-78863517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112339848	chr6:78863522-78863523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545561696	chr6:78863526-78863527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74993824	chr6:78863544-78863545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531180236	chr6:78863554-78863555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189556262	chr6:78863563-78863564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72888352	chr6:78863569-78863570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6454046	chr6:78863599-78863600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs181822424	chr6:78863647-78863648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570651955	chr6:78863690-78863691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533189309	chr6:78863712-78863713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549987419	chr6:78863724-78863725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140492161	chr6:78863737-78863738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73475056	chr6:78863765-78863766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368126795	chr6:78863768-78863769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10943520	chr6:78863829-78863830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186124740	chr6:78863891-78863892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534975856	chr6:78863903-78863904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9359320	chr6:78863959-78863960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114787519	chr6:78863965-78863966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371564263	chr6:78863973-78863974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578093120	chr6:78863985-78863986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544015608	chr6:78864007-78864008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376709324	chr6:78864099-78864100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9448302	chr6:78864109-78864110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537500409	chr6:78864111-78864112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570085326	chr6:78864134-78864135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9352573	chr6:78864165-78864166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9443527	chr6:78864204-78864205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78863000-78867200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:78863400-78863800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:78863400-78864200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:78867000-78867400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:78867200-78867400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:78867400-78868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:78869200-78869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:78869400-78869600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:78891000-78891200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:78891000-78892000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:78891200-78891600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:78891600-78892000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:78892000-78892200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:78899000-78899400	Enhancers	Fetal Intestine Large	intestine
15	chr6:78899400-78899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:78901600-78902000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr6:78901600-78902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:78901800-78902000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:78901800-78902000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:78901800-78902600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr6:78902000-78902400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr6:78908600-78908800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:78914200-78914800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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